First successful pregnancies in patients with cerebrotendinous xanthomatosis treated with chenodeoxycholic acid in Germany

Background and Aims: Cerebrotendinous xanthomatosis (CTX, OMIM #231700) is an autosomal-recessive bile acid disease due to defective mitochondrial sterol 27-hydroxylase CYP27A1, leading to tendon xanthomata, bilateral cataracts, diarrhea and ataxia. Standard therapy is chenodesoxycholic acid, 750 mg/d. During pregnancy untreated CTX patients are prone to develop miscarriages, peripartum infant death and subsequent mental deficits. There are little data on continuing treatment with chenodeoxycholic acid during pregnancy. We therefore present a patient with two successful pregnancies under CDCA for the first time in Germany.

Methods: In the event of pregnancy, the six-month presentation interval was reduced to quarterly. In addition to determining the cholesterol profile, vitamins and micronutrients were also monitored and an extended sonographic organ screening was carried out around the 20th week of pregnancy.

Results: Throughout first pregnancy 2020, cholestanol and 7α-hydroxycholesterol levels were within target range at 0.385±0.072 mg/dl and 81±15 ng/dl. The child was born on schedule, weight 3870g, length 54cm, head circumference 35cm, APGAR 9/9/10. So far, the child's development has been normal and there is no evidence of mental or physical impairment.

In 2022, the patient presented with the second pregnancy, treatment was continued. Cholesterol and 7α-hydroxycholesterol values were within target range and in 2023 a healthy child was born on schedule; weight 3470g, length 54cm, head circumference 34cm, APGAR 7/9/10

Conclusion: Treatment with CDCA in CTX patients during pregnancy is safe and, in contrast to untreated pregnancy, does probably not adversely affect the child´s development. All pregnant CTX patients should receive CDCA throughout.

Publication History

Article published online:
20 January 2025